ClinVar Miner

Submissions for variant NM_003542.4(H4C3):c.274A>C (p.Lys92Gln)

dbSNP: rs1763200003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254079 SCV001429996 pathogenic HIST1H4C-associated disorder 2020-03-16 criteria provided, single submitter clinical testing
OMIM RCV004548108 SCV002098384 pathogenic Tessadori-van Haaften neurodevelopmental syndrome 1 2023-03-21 no assertion criteria provided literature only

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